PPKDFN
MCID: KRT058
MIFTS: 29

Keratoderma, Palmoplantar, with Deafness (PPKDFN)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratoderma, Palmoplantar, with Deafness

MalaCards integrated aliases for Keratoderma, Palmoplantar, with Deafness:

Name: Keratoderma, Palmoplantar, with Deafness 58 76 13
Palmoplantar Keratoderma with Deafness 26 38 74
Keratoderma Palmoplantar Deafness 54 30 6
Palmoplantar Hyperkeratosis-Hearing Loss Syndrome 26 60
Palmoplantar Keratoderma-Hearing Loss Syndrome 26 60
Palmoplantar Hyperkeratosis-Deafness Syndrome 26 60
Palmoplantar Keratoderma-Deafness Syndrome 26 60
Ppk-Deafness Syndrome 26 60
Focal Palmoplantar Keratoderma with Sensorineural Deafness 54
Palmoplantar Keratoderma and Sensorineural Deafness 54
Hereditary Palmoplantar Keratoderma with Deafness 54
Diffuse Palmoplantar Keratoderma with Deafness 54
Keratoderma Palmoplantar, with Deafness 54
Keratoderma Palmoplantar, Deafness 41
Ppk with Deafness 26
Ppkdfn 76

Characteristics:

Orphanet epidemiological data:

60
palmoplantar keratoderma-deafness syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , vohwinkel syndrome, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome,


HPO:

33
keratoderma, palmoplantar, with deafness:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 148350
KEGG 38 H00716
MeSH 45 D007645
MESH via Orphanet 46 C536152
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C1835672
Orphanet 60 ORPHA2202
MedGen 43 C1835672
UMLS 74 C1835672

Summaries for Keratoderma, Palmoplantar, with Deafness

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2202Disease definitionPalmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma with deafness, is related to nonsyndromic deafness and deafness, autosomal dominant 3a. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma

Genetics Home Reference : 26 Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.

UniProtKB/Swiss-Prot : 76 Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.

Description from OMIM: 148350

Related Diseases for Keratoderma, Palmoplantar, with Deafness

Diseases related to Keratoderma, Palmoplantar, with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 29.5 GJB2 MT-TS1
2 deafness, autosomal dominant 3a 10.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 deafness, autosomal dominant nonsyndromic sensorineural 3 10.2
5 deafness, nonsyndromic sensorineural, mitochondrial 10.2
6 palmoplantar keratosis 10.2
7 deafness, autosomal recessive 1a 10.1

Graphical network of the top 20 diseases related to Keratoderma, Palmoplantar, with Deafness:



Diseases related to Keratoderma, Palmoplantar, with Deafness

Symptoms & Phenotypes for Keratoderma, Palmoplantar, with Deafness

Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
2 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
3 hearing impairment 33 HP:0000365
4 hyperkeratosis 60 Very frequent (99-80%)
5 palmoplantar hyperkeratosis 33 HP:0000972

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
palmoplantar hyperkeratosis

Head And Neck Ears:
hearing loss, high frequency, slowly progressive (onset in early childhood)

Clinical features from OMIM:

148350

Drugs & Therapeutics for Keratoderma, Palmoplantar, with Deafness

Search Clinical Trials , NIH Clinical Center for Keratoderma, Palmoplantar, with Deafness

Genetic Tests for Keratoderma, Palmoplantar, with Deafness

Genetic tests related to Keratoderma, Palmoplantar, with Deafness:

# Genetic test Affiliating Genes
1 Keratoderma Palmoplantar Deafness 30 GJB2

Anatomical Context for Keratoderma, Palmoplantar, with Deafness

MalaCards organs/tissues related to Keratoderma, Palmoplantar, with Deafness:

42
Skin

Publications for Keratoderma, Palmoplantar, with Deafness

Articles related to Keratoderma, Palmoplantar, with Deafness:

(show all 18)
# Title Authors Year
1
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. ( 17993581 )
2008
2
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. ( 18787097 )
2008
3
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. ( 15996214 )
2005
4
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. ( 16059934 )
2005
5
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. ( 12372058 )
2002
6
Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. ( 11175301 )
2001
7
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). ( 10633135 )
2000
8
Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. ( 11069477 )
2000
9
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. ( 10218527 )
1999
10
Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. ( 9450881 )
1998
11
The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. ( 9742104 )
1998
12
Hereditary palmoplantar keratoderma with deafness. ( 8736341 )
1996
13
Mitochondrial mutation associated with nonsyndromic deafness. ( 8572257 )
1995
14
Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness. ( 7987332 )
1994
15
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. ( 8019558 )
1994
16
Diffuse palmoplantar keratoderma with deafness. ( 6213205 )
1982
17
Sequence and organization of the human mitochondrial genome. ( 7219534 )
1981
18
Familial hereditary, progressive sensori-neural hearing loss with keratosis palmaris and plantaris. ( 127819 )
1975

Variations for Keratoderma, Palmoplantar, with Deafness

UniProtKB/Swiss-Prot genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

76
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Arg75Trp VAR_002140 rs104894402
2 GJB2 p.Asp66His VAR_008710 rs104894403
3 GJB2 p.Gly59Ala VAR_009965 rs104894404
4 GJB2 p.Arg75Gln VAR_015936 rs28931593
5 GJB2 p.His73Arg VAR_060799 rs121912968

ClinVar genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

6 (show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TS1 m.7445A> G single nucleotide variant Pathogenic rs199474818 GRCh37 Chromosome MT, 7445: 7445
2 MT-TS1 m.7445A> G single nucleotide variant Pathogenic rs199474818 GRCh38 Chromosome MT, 7445: 7445
3 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh37 Chromosome 13, 20763490: 20763490
4 GJB2 NM_004004.5(GJB2): c.231G> A (p.Trp77Ter) single nucleotide variant Pathogenic rs80338944 GRCh38 Chromosome 13, 20189351: 20189351
5 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
6 GJB2 NM_004004.6(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
7 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
8 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
9 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
10 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
11 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh37 Chromosome 13, 20763170: 20763170
12 GJB2 NM_004004.5(GJB2): c.551G> C (p.Arg184Pro) single nucleotide variant Pathogenic/Likely pathogenic rs80338950 GRCh38 Chromosome 13, 20189031: 20189031
13 GJB2 NM_004004.6(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
14 GJB2 NM_004004.6(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
15 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh37 Chromosome 13, 20763554: 20763554
16 GJB2 NM_004004.5(GJB2): c.167delT (p.Leu56Argfs) deletion Pathogenic rs80338942 GRCh38 Chromosome 13, 20189415: 20189415
17 GJB2 NM_004004.5(GJB2): c.176G> C (p.Gly59Ala) single nucleotide variant Pathogenic rs104894404 GRCh37 Chromosome 13, 20763545: 20763545
18 GJB2 NM_004004.5(GJB2): c.176G> C (p.Gly59Ala) single nucleotide variant Pathogenic rs104894404 GRCh38 Chromosome 13, 20189406: 20189406
19 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
20 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
21 GJB2 NM_004004.6(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh37 Chromosome 13, 20763612: 20763612
22 GJB2 NM_004004.6(GJB2): c.109G> A (p.Val37Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs72474224 GRCh38 Chromosome 13, 20189473: 20189473
23 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
24 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh38 Chromosome 13, 20189358: 20189358
25 GJB2 NM_004004.6(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh37 Chromosome 13, 20766921: 20766921
26 GJB2 NM_004004.6(GJB2): c.-23+1G> A single nucleotide variant Pathogenic rs80338940 GRCh38 Chromosome 13, 20192782: 20192782
27 GJB2 NM_004004.5(GJB2): c.218A> G (p.His73Arg) single nucleotide variant Pathogenic rs121912968 GRCh37 Chromosome 13, 20763503: 20763503
28 GJB2 NM_004004.5(GJB2): c.218A> G (p.His73Arg) single nucleotide variant Pathogenic rs121912968 GRCh38 Chromosome 13, 20189364: 20189364
29 GJB2 NM_004004.5(GJB2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs111033293 GRCh37 Chromosome 13, 20763720: 20763720
30 GJB2 NM_004004.5(GJB2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs111033293 GRCh38 Chromosome 13, 20189581: 20189581
31 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
32 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh38 Chromosome 13, 20189299: 20189299
33 GJB2 NM_004004.6(GJB2): c.34G> T (p.Gly12Cys) single nucleotide variant Likely pathogenic rs104894408 GRCh37 Chromosome 13, 20763687: 20763687
34 GJB2 NM_004004.6(GJB2): c.34G> T (p.Gly12Cys) single nucleotide variant Likely pathogenic rs104894408 GRCh38 Chromosome 13, 20189548: 20189548
35 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
36 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh38 Chromosome 13, 20189166: 20189166
37 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
38 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh38 Chromosome 13, 20188965: 20188965
39 GJB2 NM_004004.5(GJB2): c.663G> C (p.Lys221Asn) single nucleotide variant Uncertain significance rs375599392 GRCh37 Chromosome 13, 20763058: 20763058
40 GJB2 NM_004004.5(GJB2): c.663G> C (p.Lys221Asn) single nucleotide variant Uncertain significance rs375599392 GRCh38 Chromosome 13, 20188919: 20188919
41 GJB2 NM_004004.5(GJB2): c.670A> C (p.Lys224Gln) single nucleotide variant Uncertain significance rs111033194 GRCh37 Chromosome 13, 20763051: 20763051
42 GJB2 NM_004004.5(GJB2): c.670A> C (p.Lys224Gln) single nucleotide variant Uncertain significance rs111033194 GRCh38 Chromosome 13, 20188912: 20188912
43 GJB2 NM_004004.5(GJB2): c.379C> T (p.Arg127Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503066 GRCh37 Chromosome 13, 20763342: 20763342
44 GJB2 NM_004004.5(GJB2): c.379C> T (p.Arg127Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503066 GRCh38 Chromosome 13, 20189203: 20189203
45 GJB2 NM_004004.5(GJB2): c.188T> C (p.Val63Ala) single nucleotide variant Uncertain significance rs727504309 GRCh38 Chromosome 13, 20189394: 20189394
46 GJB2 NM_004004.5(GJB2): c.188T> C (p.Val63Ala) single nucleotide variant Uncertain significance rs727504309 GRCh37 Chromosome 13, 20763533: 20763533
47 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
48 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
49 GJB2 NM_004004.5(GJB2): c.66G> T (p.Lys22Asn) single nucleotide variant Pathogenic rs879253741 GRCh38 Chromosome 13, 20189516: 20189516
50 GJB2 NM_004004.5(GJB2): c.66G> T (p.Lys22Asn) single nucleotide variant Pathogenic rs879253741 GRCh37 Chromosome 13, 20763655: 20763655

Expression for Keratoderma, Palmoplantar, with Deafness

Search GEO for disease gene expression data for Keratoderma, Palmoplantar, with Deafness.

Pathways for Keratoderma, Palmoplantar, with Deafness

GO Terms for Keratoderma, Palmoplantar, with Deafness

Sources for Keratoderma, Palmoplantar, with Deafness

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75 UMLS via Orphanet
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